Chromosomal Microarray Analysis: Taking a ... - Kaleida Health

Microarray Analysis
Microarray Analysis
Relatively new technique examining “hotspots”
for chromosomal deletions and
duplications throughout the genome
Detects copy number variations at
resolution of 1Mb or less
Detection rate 10-20% for individuals with
normal karyotype, unexplained
developmental delay/MR +/- dysmorphic
features
Microarray Analysis - Benefits
Higher resolution than any previously available
cytogenetic technique
If a specific genomic imbalance is detected, may
be able to provide the family with prognostic
information and recurrence risk information and
MDs with possible medical complications
May get a diagnosis for previously undiagnosed
individual (parent support groups, information)
Microarray Analysis -
Limitations
New technology; chance of detecting benign copy
number changes is high. The clinical significance of
copy number changes may be refined through parental
analysis
For de novo rearrangements, prognosis is sometimes
unknown (may be novel)
Will not detect balanced rearrangements (translocations
or inversions) that may interrupt gene(s) causing
abnormal phenotype
Expensive; $1500-$2900
No laboratory has NY state approval yet
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